ASXL3

The information for this summary of ASXL3-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full ASXL3 Gene Guide

The online Gene Guide includes more information about ASXL3 such as the chance of having another child with this condition, behavior and development concerns linked to ASXL3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

ASXL3-related syndrome is also called Bainbridge-Ropers syndrome or BRPS. For this webpage, we will be using the name ASXL3-related syndrome to encompass the wide range of variants observed in the people identified.

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What is ASXL3-related syndrome?

ASXL3-related syndrome happens when there are changes to the ASXL3 gene. These changes can keep the gene from working as it should.

Key Role

The ASXL3 gene plays a key role in development of the brain and the body. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow.

Symptoms

Because the ASXL3 gene is important in the development and function of brain cells, many people who have ASXL3-related syndrome have:

  • Intellectual disability
  • Changes in skull facial features
  • Feeding problems 
  • Delayed growth
  • Skeletal issues like scoliosis and marfanoid habitus
  • Autism or features of autism
  • Low muscle tone
  • Seizures
  • Vision issues

As of 2024, at least 189 people with ASXL3-related syndrome have been identified in a medical clinic. The first case of ASXL3-related syndrome was described in 2013.

Learn more about the ASXL3 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. Check out the GeneReviews for ASXL3-related disorder.

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Research Article Summaries

Below, we have summarized research articles about changes in the ASXL3 gene. We hope you find this information helpful. The information available about ASXL3 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for ASXL3 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
  • Clinical whole-exome sequencing in child neurology practice Original research article by S. Srivastava et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome Original research article by M.N. Bainbridge et al. (2013). Read the article here and the Simons Searchlight summary here.
  • De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies Original research article by D.L. Dinwiddie et al. (2013). Read the abstract here and the Simons Searchlight summary here.
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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about ASXL3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

Stories from ASXL3  families:

Click here to share your family’s story!

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Previous Quarterly Reports